| Gene Symbol |
Blm
|
| Entrez Gene |
12144
|
| Alt Symbol |
-
|
| Species |
Mouse
|
| Gene Type |
protein-coding
|
| Description |
Bloom syndrome, RecQ helicase-like
|
| Other Description |
Bloom syndrome homolog|Bloom syndrome protein homolog|mBLM|recQ helicase homolog
|
| Swissprots |
O88198 O88700
|
| Accessions |
EDL06982 EDL06983 O88700 AB008674 BAA32001 AK137022 AK139975 AK157898 AK164605 BB614580 BB655193 BC157095 AAI57096 Z98263 CAB10933 NM_001042527 NP_001035992 NM_007550 NP_031576
|
| Function |
Participates in DNA replication and repair. Exhibits a magnesium-dependent ATP-dependent DNA-helicase activity that unwinds single- and double-stranded DNA in a 3'-5' direction. Involved in 5'-end resection of DNA during double-strand break (DSB) repair: unwinds DNA and recruits DNA2 which mediates the cleavage of 5'-ssDNA. Negatively regulates sister chromatid exchange (SCE). {ECO:0000269|PubMed:9840919}.
|
| Subcellular Location |
Nucleus {ECO:0000250}. Note=Together with SPIDR, is redistributed in discrete nuclear DNA damage-induced foci following hydroxyurea (HU) or camptothecin (CPT) treatment. Accumulated at sites of DNA damage in a RMI complex- and SPIDR- dependent manner (By similarity). {ECO:0000250}.
|
| Tissue Specificity |
Highly expressed in testis 12-14 days after birth (corresponding to the pachytene phase) and at much lower levels in brain, heart, liver, lung, thymus, kidney and spleen. {ECO:0000269|PubMed:9655940}.
|
| Top Pathways |
Homologous recombination, Fanconi anemia pathway
|